Achondroplasia is the most common form of short-limb dwarfism, a developmental disorder in which bone tissue does not develop properly in the long bones of the arms and legs. The condition affects about 1 in 25,000 individuals of all ethnic groups.
inheritance pattern
Achondroplasia is a single gene disorder caused by certain mutations in the gene on chromosome 4. The disease is described as dominant because only one copy of the gene needs be mutated before symptoms develop.
symptoms
the typical apperance of achondroplastic dwafism can be seen at birth. some off the symptoms are.
Abnormal hand appearance with persistent space between the long and ring fingers
Bowed legs
Decreased muscle tone
Disproportionately large head-to-body size difference
Shortened arms and legs (especially the upper arm and thigh)
Short stature (significantly below the average height for a person of the same age and sex)
Spinal stenosis
Spine curvatures called kyphosis and lordosis
some people may be in wheel chairs or on crushes it all depends what all they have.
treatment
there is no specific treatment for achondroplasia. related abnormalities , including spinal stenosis and spinal cord compression, should be treated when they cause problem. this disorder is not curriable .
incidence
One detailed and long-running study in the Netherlands found that the prevalence determined at birth was only 1.3 per 100,000 live births. However, another study at the same time found a rate of 1 per 10,000.
70 % of alll casses.
achondroplasia
Achondroplasia is the most common form of short-limb dwarfism, a developmental disorder in which bone tissue does not develop properly in the long bones of the arms and legs. The condition affects about 1 in 25,000 individuals of all ethnic groups.inheritance pattern
Achondroplasia is a single gene disorder caused by certain mutations in the gene on chromosome 4. The disease is described as dominant because only one copy of the gene needs be mutated before symptoms develop.
symptoms
the typical apperance of achondroplastic dwafism can be seen at birth. some off the symptoms are.
treatment
there is no specific treatment for achondroplasia. related abnormalities , including spinal stenosis and spinal cord compression, should be treated when they cause problem. this disorder is not curriable .incidence
One detailed and long-running study in the Netherlands found that the prevalence determined at birth was only 1.3 per 100,000 live births. However, another study at the same time found a rate of 1 per 10,000.70 % of alll casses.
http://www.columbianeurosurgery.org/conditions/achondroplasia/mm | http://en.wikipedia.org/wiki/Achondroplasia | http://health.nytimes.com/health/guides/disease/achondroplasia/overview.html.
pictures
questions
what are the symptoms of this discorder?what causes achondroplasia?
is there any treatment for this disorder?